Canonical Allele Identifier: CA345413537

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947532T>G (hg19) ; chr1:g.237784232T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784232T>G , CM000663.2:g.237784232T>G	GRCh38
NC_000001.10:g.237947532T>G , CM000663.1:g.237947532T>G	GRCh37
NC_000001.9:g.236014155T>G	NCBI36
NG_008799.2:g.746831T>G
NG_008799.3:g.747049T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3612T>G	ENSP00000499659.2:n.*3612T>G
ENST00000659194.3:c.12508T>G	ENSP00000499653.3:p.Phe4170Val
ENST00000660292.2:c.12541T>G	ENSP00000499787.2:p.Phe4181Val
ENST00000659194.2:c.4697T>G
ENST00000366574.7:c.12520T>G MANE Select	ENSP00000355533.2:p.Phe4174Val
ENST00000659194.1:c.4697T>G
ENST00000660292.1:c.2573T>G
ENST00000360064.7:c.12472T>G	ENSP00000353174.7:p.Phe4158Val
ENST00000366574.6:c.12520T>G	ENSP00000355533.2:p.Phe4174Val
ENST00000609119.1:n.3715T>G
NM_001035.2:c.12520T>G	NP_001026.2:p.Phe4174Val
XM_006711802.2:c.12574T>G	XP_006711865.1:p.Phe4192Val
XM_006711803.2:c.12571T>G	XP_006711866.1:p.Phe4191Val
XM_006711804.2:c.12550T>G	XP_006711867.1:p.Phe4184Val
XM_006711805.2:c.12544T>G	XP_006711868.1:p.Phe4182Val
XM_006711806.2:c.12538T>G	XP_006711869.1:p.Phe4180Val
XM_006711807.2:c.12514T>G	XP_006711870.1:p.Phe4172Val
XM_006711808.2:c.12337T>G	XP_006711871.1:p.Phe4113Val
XM_006711810.2:c.12481T>G	XP_006711873.1:p.Phe4161Val
XM_006711802.3:c.12574T>G	XP_006711865.1:p.Phe4192Val
XM_006711803.3:c.12571T>G	XP_006711866.1:p.Phe4191Val
XM_006711804.3:c.12550T>G	XP_006711867.1:p.Phe4184Val
XM_006711805.3:c.12544T>G	XP_006711868.1:p.Phe4182Val
XM_006711806.3:c.12538T>G	XP_006711869.1:p.Phe4180Val
XM_006711807.3:c.12514T>G	XP_006711870.1:p.Phe4172Val
XM_006711808.3:c.12337T>G	XP_006711871.1:p.Phe4113Val
XM_006711810.3:c.12481T>G	XP_006711873.1:p.Phe4161Val
XM_017002028.1:c.12553T>G	XP_016857517.1:p.Phe4185Val
NM_001035.3:c.12520T>G MANE Select	NP_001026.2:p.Phe4174Val